rs1130378

This is a synonymous variant in the FLT4 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★☆☆☆
6 submitters1 publication

Congenital heart defects, multiple types, 7; Hereditary lymphedema type I (LMPHM1); not specified

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About FLT4

This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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